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High Resolution SNP Panels for Forensic Identification of Ancestry, Family, and Phenotype

NCJ Number
Date Published
July 2017
11 pages
The overall purpose of this project was to develop better sets of single nucleotide polymorphisms (SNP) markers for forensic applications.

Within this purpose, one of the project's goals was to develop ancestry informative SNP (AISNP) panels that provide more robust differentiation at even finer geographic levels with an optimized panel of SNPs with large allele frequency differences among populations. A second goal was to identify and characterize additional multi-SNP heliotypes for inference of lineage (clan and extended family) relationships (LISNPS), focusing on molecularly smaller regions that still define multiple alleles (heliotypes) to take advantage of the newest genome sequencing technology to eliminate ambiguity in phase. These broad goals are interrelated. Many phenotype informative (PISNPs) markers for skin or eye color, hair type, etc., are excellent AISNPs. Thus, the project also sought to characterize the population genetics of additional PISNPs, since they are also candidate AISNPs. Multiallelic heliotypes also convey more information on identity and ancestry than the same SNPs considered as independent single SNPs. The SNPs identified in this project should be useful for many investigative purposes. To the degree that SNPs identified by this study are brought before the courts, this project's work provides a sound scientific basis for their acceptability. Population samples collected on the SNPs identified provide a strong statistical foundation for conclusions when used as investigative tools for inference of ancestry, phenotype, or family/clan membership. As forensic laboratories begin sequencing routinely, this project's results will be used in practice, because both Illumina and LifeTech kits have already incorporated the project's 55-AISNP and 45-IISNP panels. Both companies have expressed interest in adding more AISNPs when this project has verified them for better resolution of ancestry. Publications accessible and in preparation on this project are listed.

Date Published: July 1, 2017